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Article

PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.

Journal of medical genetics - 26 Feb 2025

Taniguchi Noritaka, Watanuki Keisuke, Nakato Daisuke, Takenouchi Toshiki, Kosaki Kenjiro, Koga Hiroshi

Abstract excerpt

INTRODUCTION: Genotype-phenotype correlations in PURA-related neurodevelopmental disorders (PURA-NDDs) remain unclear. This systematic review aimed to clarify these correlations. METHODS: Searches of PubMed and Embase were conducted on 8 August 2024 to identify studies that had investigated genetically diagnosed PURA-NDDs (5q31.3 deletion syndrome and PURA syndrome). All types and languages of studies were...

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Identifiers

PMID: 39824548
DOI: 10.1136/jmg-2024-110379

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